Special

HsaEX6066576 @ hg19

Exon Skipping

Gene
ENSG00000050438 | SLC4A8
Description
solute carrier family 4, sodium bicarbonate cotransporter, member 8 [Source:HGNC Symbol;Acc:11034]
Coordinates
chr12:51818594-51844806:+
Coord C1 exon
chr12:51818594-51818819
Coord A exon
chr12:51834492-51834573
Coord C2 exon
chr12:51844660-51844806
Length
82 bp
Sequences
Splice sites
3' ss Seq
ACTTATTTGTGTTTAAACAGAGA
3' ss Score
7.79
5' ss Seq
AAGGTAAGA
5' ss Score
10.57
Exon sequences
Seq C1 exon
ATTGGTTGCGGCGGATGCCTCGCGGGCCGGTGGCTATGGAGGCGGCGGCGGTTGATGGTTGACCGTTGGCTCCGGGGTGGGGGTCGCCGTTCGAGTGATCTGCTCAGACCCGACCAGAGGGCGCGGGCTGCTGATGCTTGGCTTGGAGCCCGTGGGGGAGACCTAGTTCGGCTCCGCCATGCCGGCCGCCGGGAGTAACGAGCCGGACGGCGTCCTCAGCTATCAG
Seq A exon
AGACCAGATGAAGAAGCTGTGGTGGATCAGGGTGGGACCAGTACAATTCTCAACATTCACTATGAAAAAGAAGAGCTGGAAG
Seq C2 exon
GTCACAGAACTCTGTATGTGGGAGTTCGGATGCCGCTTGGCCGGCAGAGCCATCGGCATCACCGCACTCATGGCCAGAAGCACCGGAGACGAGGGCGGGGCAAAGGAGCCAGCCAGGGGGAGGAAGGCCTGGAAGCCCTGGCCCACG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000050438-'1-2,'1-1,2-2=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=1.000 A=0.673 C2=0.830
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCGTTCGAGTGATCTGCTCAG
R:
GGCATCCGAACTCCCACATAC
Band lengths:
174-256
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains